MELAS Syndrome Presenting as Occipital Brain Infarct: Case Report.
- Author:
In Bo HAN
1
;
Jung Yong AHN
;
Hyun Sook KIM
;
Ok Jun KIM
Author Information
1. Department of Neurosurgery, Pundang CHA Hospital, College of Medicine, Pochon CHA University, Seongnam, Korea. jyahn@cha.ac.kr
- Publication Type:Case Report
- Keywords:
MELAS syndrome;
A3243G;
Mitochondrial DNA mutation
- MeSH:
Acidosis, Lactic;
Adolescent;
Aspartic Acid;
Brain*;
Headache;
Humans;
Infarction;
Lactic Acid;
Leukocytes;
Magnetic Resonance Spectroscopy;
Male;
MELAS Syndrome*;
Mitochondrial Myopathies;
Molecular Biology;
Paresis;
Point Mutation;
Seizures;
Stroke
- From:Korean Journal of Cerebrovascular Surgery
2005;7(4):329-332
- CountryRepublic of Korea
- Language:English
-
Abstract:
MELAS syndrome is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. A 14-year-old male presented with symptoms that resemble stroke including headache, seizure, visual disturbance and slight left hemiparesis. Laboratory investigation showed elevated lactate level in the blood. Brain computed tomography and magnetic resonance image revealed acute infarction in the right occipitoparietal lobe, which was not restricted to a specific vascular territory. Magnetic resonance spectroscopy showed decreased N-acetyl aspartate and increased lactate level in the affected lobe. A molecular genetic analysis identified A3243G point mutation in the peripheral blood leukocytes and confirmed MELAS syndrome. We describe clinical, radiological and molecular genetic findings in the patient with MELAS syndrome presenting occipital brain infarct.
